Article Text

PDF

Myophosphorylase deficiency (McArdle's disease) in two interrelated families
  1. P. Cochrane,
  2. R. R. Hughes,
  3. P. H. Buxton,
  4. R. A. Yorke
  1. Royal Southern and Walton Hospitals, Liverpool

    Abstract

    The clinical and laboratory findings are presented of three patients (two affected sisters and their male cousin) with myophosphorylase deficiency in two interrelated families. Nine unaffected relatives were also investigated. Although the three patients demonstrated the characteristic features of the disease, their unaffected relatives showed no clear evidence of a heterozygous state. The genetic findings support the hypothesis that the disease is inherited as a rare autosomal recessive. A possible sex-limited mode of inheritance is discussed.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.